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Syndrome Schwamman-Diamond
Last reviewed: 20.11.2021
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Syndrome Shvakhmana-Diamond is an autosomal recessive disease characterized by pancreatic insufficiency, neutropenia, neutrophil chemotaxis disorder, aplastic anemia, thrombocytopenia, metaphyseal dysostosis, physical development delay. The prevalence is 1:50 000. The SBDS gene (Shwachman-Bodian-Diamond syndrome-gene), on chromosome 7, in the 7qll zone, mutations of which lead to the development of this disease, is revealed.
ICD-10 code
K86. Other pancreatic diseases.
Symptoms of Schwamman-Diamond Syndrome
The manifestation occurs usually at the age of 3-5 months after the introduction of complementary foods, rarely before. Diarrhea occurs up to 4-10 times a day, often of an intermittent nature, a plentiful, fetid fatty stool. Appetite is sharply reduced, rapidly developing dystrophy, there is a delay in physical and neuropsychic development. Often, deformations of the skeleton are detected, signs of osteopenia accompanied by spontaneous fractures. In the peripheral blood, neutropenia, normochromic and normosiderememic anemia, thrombocytopenia, combined with hemorrhagic syndrome are noted. The liver is dense, with a sharp edge. Children with Shvakhman-Diamond syndrome are susceptible to bacterial infections of the respiratory system and skin (bronchitis, pneumonia, abscesses, pseudofurunculosis, pyoderma).
Some clinical symptoms (pancreatic hypoplasia, steatorrhea, lung and liver pathology) require the exclusion of cystic fibrosis. With the syndrome of Schwamman-Diamond, the swallowing test and other tests for cystic fibrosis are negative.
Treatment of Schwamman-Diamond Syndrome
A high-calorie diet with fat restriction, rich in proteins, with addition of medium-chain triglycerides, substitutive administration of pancreatic drugs, timely antibacterial treatment of infections is shown.